Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000127417 | SCV000170980 | benign | not specified | 2013-06-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000967794 | SCV001115213 | benign | not provided | 2025-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001001914 | SCV001159668 | benign | Pyruvate dehydrogenase E3-binding protein deficiency | 2019-04-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004757963 | SCV005352143 | benign | PDHX-related disorder | 2024-05-13 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |